Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
multiple sclerosis variant	MONDO_0016428
postinfectious encephalitis	MONDO_0020068
obsolete_qualitative or quantitative defects of protein O-mannosyltransferase 2	Orphanet_209033
CXCL1 measurement	EFO_0010777	[Quantification of the amount of CXCL1 protein in a sample]
obsolete_qualitative or quantitative defects of protein O-mannosyltransferase 1	Orphanet_209030
acrocephalopolydactyly	MONDO_0008709	[Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.]
CXCL10 measurement	EFO_0010778	[Quantification of the amount of CXCL10 protein in a sample]
lung disease associated with cystic fibrosis	EFO_0009797	[A spectrum of lung disorders that develop in patients with cystic fibrosis.]
interleukin-10 receptor B measurement	EFO_0010786	[Quantification of the amount of interleukin-10 receptor B in a sample]
adenosarcoma	EFO_0007134	[A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites.]
Malignant Mixed Neoplasm	EFO_1000356	[A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung.]
Genital neoplasm, female	EFO_1001331	[A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma.]
adenomyoma	EFO_0007133	[A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy.]
benign female reproductive system neoplasm	MONDO_0000624	[A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor.]
interleukin-12 subunit B measurement	EFO_0010787	[Quantification of the amount of interleukin-12 subunit B in a sample]
acromesomelic dysplasia 2C, Hunter-Thompson type	MONDO_0008717	[Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.]
acute hemorrhagic leukoencephalitis	EFO_0007132	[Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL., A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema.]
acute hemorrhagic encephalitis	MONDO_0003337	[Acute encephalitis that is characterized by bleeding.]
fibroblast growth factor 5 measurement	EFO_0010784	[Quantification of the amount of fibroblast growth factor 21 in a sample]
acrogeria	MONDO_0008716	[A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed.]